Tip:
Highlight text to annotate it
X
it’s curable by surgical removal and most patients will
AH: Amongst the diabetes known as monogenic diabetes there are two groups: there are ones
that run in families, that typically come on later, or there’s one known as neonatal
diabetes, which comes on in the first six months of life.
Woman: Somewhere around six weeks or so she developed a very high fever, our paediatrician
asked us to take her into the emergency room, and they tested her blood work and her urine
and her spinal fluid and found very high levels
of glucose in those. And at that point in time she was
considered to be a diabetic. Caroline: I was actually diagnosed with type
1 diabetes on the 1st of January 1961. Professor Frances Ashcroft: Twenty-five years
ago we discovered a protein that’s extremely important for insulin secretion
and the name of this protein is the KATP channel. The key thing was to go and look in human
patients with diabetes to see if they had any genetic changes, and the person who found
those was my wonderful friend and colleague Andrew
Hattersley, and I’ve never forgotten the day when
he rang me up and he said ‘Fran I think you should sit down, I’ve got something
exciting to tell you’, and he told me that he’d found the
first genetic changes. AH: We took blood from people who had neonatal
diabetes and by a series of chemical processes we were able to extract DNA and
what we were able to show was that there were changes within the KIR6.2 gene and the people
who had those changes had neonatal diabetes. Caroline: In 2006 I got a phone call out of
the blue from a doctor, Ewan Pearson from Nine Wells
Hospital, asking me to come up for some genetic testing because there’d been a breakthrough
made in the type of diabetes known as neonatal diabetes. On the 8th of May 2007 I was given
a diagnosis of permanent neonatal diabetes with
a mutation of the SUR1 gene. Woman: We were given an endocrinologist who
came to us and at first was kind of baffled over
the fact that she was so young and he’d never seen a child so young with diabetes
but he had read an article a week or so previously by
Dr Hattersley describing a type of neonatal diabetes. So
he contacted Dr Hattersley by email and within a few hours had a response that said ‘I
think this may be what your daughter has, send blood
samples to the UK and we will test her blood’. And
so we did that and sure enough she has the potassium channel defect that causes neonatal
diabetes. AH: As soon as the mutations were found the
possibility of treatment was there and that was
because of all the research that had happened prior to what we’d discovered, because we
already knew that this channel was key in the beta cell but importantly we knew that
this channel was where the sulphonylurea drugs bound.
FA: Patients with neonatal diabetes have lots of beta cells and they have lots of insulin,
they just don’t release it when their blood sugar
level goes up, and because it was thought these children
had type 1 diabetes they were given insulin injections from birth; but now we knew that
they didn’t need to have them and they could
actually have sulphonylurea drugs. Caroline: I was gradually started on glycoside
to try and get me off of insulin. Over a 23-month period I’ve been transferred from insulin
to glycoside. I’m now on 640 milligrams of glycoside
twice a day. AH: What we started to find was that, as we
slowly increased the dose of the sulphonylurea tablet, that the dose of insulin came down
and then, remarkably, they were able for the first time
in their lives to stop taking insulin because now the tablets controlled it.
Caroline: And it’s been like night and day. I feel a lot better and my diabetes seems
to be a lot better controlled than it’s ever been.
John: I have noticed that she’s really cheered up, she’s totally different from what she
used to be, like she says, like night and day. And I don’t
know what the pills are but they’re obviously great.
Woman: I said it’s treated by a pill and that we were going to as soon as possible
start the transition from the insulin pop to her glyburide
and so we did that, we went in and saw him and
did it and within two days and she was off of insulin once she started the pill form
of the medication within 24 hours. That changed her
life absolutely.